Skip to Main Content

We have a new app!

Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more.

Download the Access App here: iOS and Android

Coarse (acromegaloid) facies (flat and sloping forehead) with thick lips, micrognathia, overgrowth of the intraoral mucosa, blepharophimosis, bulbous nose with thick alae and prominent philtrum, cutis verticis gyrata, corneal leukoma, hyperextensible joints, and occasional mental retardation.

Acromegaloid Facial Appearance (AFA) Syndrome; Thick Lips and Oral Mucosa Syndrome.

Described by Helen B. Hughes, a Canadian pediatrician. Extremely rare abnormality of fetal development of unknown cause. Some familial AFA syndrome cases have been reported.

Autosomal dominant transmission of combined phenotype. The phenotype is highly variable and appears to show complete penetrance. There is no genetic background and no molecular data concerning the syndrome.


Hughes syndrome is suspected at birth based on the clinical aspects of acromegaloid facial features, thickened lips, arched eyebrows, blepharophimosis, bulbous nose, overgrowth of the intraoral mucosa with exaggerated rugae and frenula, thickened upper lids, narrowing palpebral fissures (blepharophimosis), bulbous nose, and large and doughy hands without clubbing. Pachydermoperiostosis, Asher syndrome, and multiple neuroma syndrome must be considered in the differential diagnosis.

In the Hughes syndrome, there is no evident impairment of general health. In neonates, eliminate a multiple endocrine adenomatosis syndrome (Multiple Endocrine Neoplasia (MEN)) and research carefully for the association of hypoglycemia. Evaluate for airway obstruction and difficult tracheal intubation related to excessive enlargement of the tongue and epiglottis, coarse facial features, and increased thickness and length of mandible.

Airway management may be the most important consideration with this condition. Because of the facial features suggestive of difficult direct laryngoscopy and tracheal intubation, maintain spontaneous ventilation until tracheal intubation has been secured and lung ventilation confirmed. The potential for postoperative mechanical ventilation support should be considered after major surgical procedures. This approach also allows better pain management without the consequences of respiratory depression and/or obstruction.

No specific pharmacological considerations with this medical condition.

Dallapiccola B, Zelante L, Accadia L, et al: Acromegaloid facial appearance (AFA) syndrome: Report of a second family. J Med Genet 29:419, 1992.  [PubMed: 1619638]
Hughes HE, McAlpine PJ, Cox DW, et al: An autosomal dominant syndrome with “acromegaloid” features and thickened oral mucosa. J Med Genet 22:119, 1985.  [PubMed: 3989825]

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.